Table 3.
Univariate relative risks of an orphan designation application at EMA or FDA for different disease characteristics and for publicly available scientific knowledge
| Disease characteristics | Total N = 166 | OD application N = 42 | No OD application N = 124 | Univariate RR (95% CI) |
|---|---|---|---|---|
|
1. Metabolic disease class |
|
|
|
|
| Metabolic disease involving complex molecules |
62 |
23 (37%) |
39 (63%) |
Ref |
| Metabolic intoxication disease |
36 |
14 (38%) |
22 (61%) |
1.1 (0.5–2.0) |
| Energy metabolism disorder |
45 |
3 (7%) |
42 (93%) |
0.2 (0.1–0.6) |
| Carbohydrate metabolism disorder |
12 |
1 (8%) |
11 (92%) |
0.2 (0.03–1.7) |
| Other metabolic disease |
11 |
1 (9%) |
10 (91%) |
0.3 (0.03–1.8) |
|
2. First description of the disease |
|
|
|
|
| ≤ 1977 |
98 |
36 (37%) |
62 (63%) |
4.2 (1.8–9.9) |
| > 1977 |
68 |
6 (9%) |
62 (91%) |
Ref |
|
3. Prevalence |
|
|
|
|
| 1-9/1.000.000 |
38 |
25 (66%) |
13 (34%) |
5.0 (2.7–9.2) |
| <1/1.000.000 |
128 |
17 (13%) |
111(87%) |
Ref |
|
4. Prognosis |
|
|
|
|
| Fatal/chronically debilitating despite treatment |
96 |
34 (35%) |
62 (65%) |
2.7 (1.3–5.8) |
| Non fatal/not chronically debilitating |
61 |
8 (13%) |
53 (87%) |
Ref |
| Unknown |
9 |
0 (0%) |
9 (100%) |
NA |
|
Scientific knowledge related variables |
|
|
|
|
|
5. Gene function identified? |
|
|
|
|
| Yes |
140 |
42 (30%) |
98 (70%) |
26.1 (0.7–966) |
| No |
26 |
0 (0%) |
26(100%) |
Ref |
|
6. Animal model available? |
|
|
|
|
| Yes |
87 |
33 (38%) |
54 (62%) |
3.0 (1.5–6.0) |
| No |
79 |
9 (11%) |
70 (89%) |
Ref |
|
7. Preclinical proof of concept? |
|
|
|
|
| Yes |
53 |
31 (58%) |
22 (42%) |
6.0 (3.0–12.0) |
| No |
113 |
11 (10%) |
102(90%) |
Ref |
|
8. In humans data available? |
|
|
|
|
| Yes |
76 |
31 (40%) |
45 (59%) |
3.3 (1.7–6.6) |
| No | 90 | 11 (12% | 79 (88%) | Ref |